ArticleFrontiers in pediatrics2024
Clinical profile and molecular genetic analysis of alport syndrome in children: a single center experience.
Article in Frontiers in pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Genetic heterogeneity correlated with phenotypic variability in 6 Chinese families with Alport syndrome.Frontiers in genetics · 2026Article
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6 authors.
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Abstract
Background: Alport syndrome (AS) is a multifaceted condition that primarily affects the basement membranes of the kidneys, ears, and eyes. AS is considered the second most common cause of hereditary renal failure, exhibiting varied clinical manifestations across different lifespans. The aim of this study is to investigate the clinical features and genetic profile of AS and to elucidate the genotype-phenotype correlation of AS. Method: The clinical and genetic data of ten children with AS treated at the General Hospital of Ningxia Medical University between January 2021 and May 2024 were retrospectively analyzed. Results: Ten children with AS, six male and four female patients, with a mean age of 9 years (ranging from 3 to 15 years) were reported. Hematuria was observed in all individuals, with six cases exhibiting microscopic hematuria and four cases exhibiting macroscopic hematuria. Furthermore, extra-renal manifestations were noted in five cases, encompassing ocular abnormalities ( Conclusion: In this study, the most commonly observed mutation was glycine substitution. Additionally, patients exhibiting severe mutations showed an increased vulnerability to complications, including proteinuria, ocular lesions, and hearing impairment. Genetic testing emerged as a critical resource for diagnosing AS. Furthermore, early diagnosis is crucial for implementing an appropriate management plan and assessing the prognosis.
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